NM_018100.3:c.475C>T |
NP_060570.2:p.(Arg159Trp) |
2 |
JME |
M |
17 |
My, GTC |
Yes |
|
|
13 |
JME |
F |
12 |
My, A, GTC |
Yes |
|
|
18 |
JME |
M |
16 |
My, A, GTC |
Yes |
|
|
22 |
JME |
F |
14 |
My, A, GTC |
Yes |
|
|
24 |
JME |
M |
18 |
My, GTC |
Yes |
|
|
26 |
JME |
M |
NI |
NI |
No |
|
|
29 |
JME |
F |
14 |
My, GTC |
Yes |
|
|
39 |
JME |
F |
NI |
My, A, GTC |
Yes |
|
|
41 |
JME |
M |
NI |
NI |
No |
|
|
42 |
JME |
F |
5 |
My, A, GTC |
Yes |
|
|
47 |
JME |
F |
19 |
My |
Yes |
|
|
52 |
JME |
F |
15 |
GTC, My, A |
No |
|
|
60 |
JME |
F |
9 |
GTC, My |
No |
|
|
78 |
JME |
M |
15 |
GTC, My, A |
No |
|
|
82 |
JME |
F |
14 |
GTC, My |
No |
|
|
93 |
JME |
F |
12 |
GTC, My |
No |
|
|
97 |
JME |
F |
20 |
GTC, My |
No |
NM_018100.3:c.475C>G |
NP_060570.2:p.(Arg159Gly) |
71 |
JME |
M |
12 |
GTC, A |
No |
NM_018100.3:c.545G>A |
NP_060570.2:p.(Arg182His) |
9 |
JME |
F |
NI |
NI |
Yes |
|
|
21 |
JME |
F |
17 |
My, GTC |
Yes |
|
|
28 |
JME |
F |
13 |
My, A, GTC |
Yes |
|
|
43 |
JME |
F |
11 |
My, GTC |
Yes |
|
|
46 |
JME |
F |
19 |
My |
Yes |
NM_018100.3:c.662G>A |
NP_060570.2:p.(Arg221His) |
65 |
JME |
M |
9 |
GTC, My |
No |
NM_018100.3:c.685T>C |
NP_060570.2:p.(Phe229Leu) |
4 |
JME |
M |
7 |
My, GTC |
Yes |
|
|
16 |
JME |
F |
NI |
NI |
No |
|
|
23 |
JME |
M |
NI |
NI |
No |
NM_018100.3:c.887G>A |
NP_060570.2:p.(Arg296His) |
56 |
JME |
M |
14 |
GTC, My, A |
No |
|
|
58 |
JME |
M |
14 |
GTC, My, A |
No |
NM_018100.3:c.896A>G |
NP_060570.2:p.(Lys299Arg) |
28 |
JME |
F |
13 |
My, A, GTC |
Yes |
NM_018100.3:c.1343T>C |
NP_060570.2:p.(Met448Thr) |
4 |
JME |
M |
7 |
My, GTC |
Yes |
|
|
21 |
JME |
F |
17 |
My, GTC |
Yes |
|
|
44 |
JME |
F |
NI |
NI |
No |
|
|
62 |
JME |
M |
14 |
GTC, My |
No |
|
|
66 |
JME |
F |
7 |
GTC, My, A |
No |
|
|
69 |
JME |
M |
21 |
GTC, My, A |
No |
|
|
76 |
JME |
M |
4 |
GTC, My, A |
No |
|
|
99 |
JME |
F |
16 |
GTC, My, A |
No |
NM_018100.3:c.1765G>A* |
NP_060570.2:p.(Glu589Lys) |
87 |
JME |
M |
11 |
GTC, My, A |
No |
NM_018100.3:c.1820A>G* |
NP_060570.2:p.(Asn607Ser) |
60 |
JME |
F |
9 |
GTC, My |
No |
NM_018100.3:c.1855A>C |
NP_060570.2:p.(Ile619Leu) |
2 |
JME |
M |
17 |
My, GTC |
Yes |
|
|
19 |
JME |
F |
21 |
My, A, GTC |
Yes |
|
|
32 |
JME |
F |
14 |
My, A, GTC |
Yes |
|
|
34 |
JME |
F |
12 |
My, A, GTC |
Yes |
|
|
38 |
JME |
F |
NI |
NI |
No |
|
|
43 |
JME |
F |
11 |
My, GTC |
Yes |
|
|
48 |
JME |
M |
14 |
My, A, GTC |
Yes |
|
|
56 |
JME |
M |
14 |
GTC, My, A |
No |
|
|
58 |
JME |
M |
14 |
GTC, My, A |
No |
|
|
68 |
JME |
M |
13 |
GTC, My |
No |
|
|
70 |
JME |
M |
3 |
GTC, My, A |
No |
|
|
89 |
JME |
M |
NI |
GTC, My |
No |
|
|
104 |
GTCSa |
F |
11 |
GTC |
Yes |